Clinical research progress of twin pregnancy with preeclampsia / 中国综合临床

Preeclampsia is a multiple system disease in obstetrics, which often leads to adverse pregnancy outcome.Twin pregnancy is a high-risk pregnancy.When preeclampsia occurs, the condition is very serious, and the complications of mother and child are increasing.The pathogenesis of preeclampsia is diversified.The high risk factors of twin pregnancy with preeclampsia are bichorionic, assisted reproductive technology pregnancy, primipara, and advanced age.The timing of termination of pregnancy should be selected according to chorionic nature, and the indications of cesarean section should be relaxed to reduce the adverse pregnancy outcomes.Clinical studies mostly use comprehensive indicators combined with screening to predict preeclampsia.How to prevent preeclampsia still needs further clinical and basic research.

Comparison between single nucleotide polymorphism array and karyoty-ping in prenatal diagnosis in Down’ s screening abnormal pregnancy / 中国病理生理杂志

[ ABSTRACT] AIM:To evaluate the clinical application of single nucleotide polymorphism array ( SNP array) in prenatal diagnosis for screening the abnormality of women with Down’ s syndrome ( DS) .METHODS:The amniotic fluid samples ( n=312) collected by amniocentesis for the DS screening abnormality women were tested by karyotyping and SNP array analysis, respectively.The findings of karyotyping and SNP array analysis were compared.RESULTS:Two cases of trisomy 21 were identified by karyotyping and SNP array analysis, but SNP array analysis failed to identify 6 cases of chro-mosome balanced structural rearrangement.SNP detected 176 cases copy number variants ( CNVs) in 303 cases normal karyotype were detected by SNP, including 106 benign CNVs, 61 variants of unknown significance (VOUS), 9 de novo CNVs, and none of them was pathogenic.The distribution difference of CNVs in DS screening positive group and DS screening positive plus advanced maternal age group was not statistically significant ( P>0.05) .Furthermore, we reported 14 kinds of CNVs for the first time in population.CONCLUSION:SNP array can further assure chromosome microdupli-cation/microdeletion.In normal karyotype fetus of prenatal diagnosis, SNP can detect some clinical significant CNVs.

Application of methylation-specific multiplex ligation-dependent probe amplification for the study of DNA methylation in placenta tissues / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the feasibility of using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for the detection of DNA methylation in placenta tissue.</p><p><b>METHODS</b>For blood cells from 13 non-pregnant women and 9 euploid placenta, the ratios of DNA methylation were evaluated for 4 genes including CGI149, CGI113, HLCS and ACTB with MS-MLPA and bisulfite sequencing, respectively.</p><p><b>RESULTS</b>The methylation ratio of the ACTB gene was 0-0.1 for the blood cells when the digestion control was completely digested. The cutoff value for the methylation ratio of MS-MLPA has been determined as 0.1. For the 9 placenta samples, results of MS-MLPA and bisulfite sequencing were concordant for all of the four genes.</p><p><b>CONCLUSION</b>MS-MLPA is an effective alternative to bisulfite sequencing for the assessment of methylation ratios in placental tissues.</p>